First spotlit on World Duchenne Awareness Day, on September 7th, then for the announcement of eteplirsen market authorization in the U.S, Duchenne muscular dystrophy is once again a burning issue this month. Today, September 30th, 2016 marks the 30th anniversary of the DMD gene discovery announcement.
September 30th, 1986: a new era for genetics
On September 30th, 1986, Anthony Monaco, a young researcher from Louis M. Kunkel’s research team, attended the Tours myology congress, organized by the AFM (Association Française contre les Myopathies). On this occasion, he announced that the gene responsible for Duchenne muscular dystrophy had been identified on chromosome X. This identification was made possible thanks to an innovative method: reverse genetics.
“Reverse genetics start from the hereditary character of the disease, without preliminary knowledge of the protein deficit, Serge Braun, AFM-Téléthon’ scientific director, explains. On the contrary, before, the gene identification method was simply based on the protein which, lacking or missing, was causing the disease. This method was particularly time-consuming. The novel method of reverse genetics was therefore a turning point for genetics.”
A discovery triggering numerous progresses
“For the first time, the beast was showing,” Bernard Barataud, co-founder of the Téléthon, wrote in his book In the Name of our Children. From this discovery followed the first maps of the human genome, between 1992 and 1996, and then, more recently, several therapeutic methods, which now benefit other diseases. Indeed, the dystrophin gene being the largest known human gene, researchers were led to develop different therapeutic strategies, among which gene therapy or pharmacogenetics.
30 years later: research is advancing
From now on, the goal is to stop this evolutive disease as soon as possible and, eventually, to cure it completely. Currently, several dozens of therapeutic trials on DMD are going on in the world, and more are being prepared.
Several hundreds of children are included in those trials. Among them, there is 10 year-old Léo, affected with DMD and ambassador of the 30th Téléthon. Since he was included in the trial almost 2 years ago, Léo goes every Wednesday to I-Motion, a pediatric clinical trial platform based in the Trousseau hospital in Paris.
“To be in a trial is going from the stage where you tell yourself you can’t do anything, to the stage where you can do something, where you don’t remain powerless against the disease and where you stack all the odds in your favour to go on.”